Transcript 1-Premarital Counceling.pptx

PRE MARITAL
COUNSELING &TESTS
Dr. Ebtisam Zarb
Demonstrator
Dept of Family & Com. Medicine
King Saud University
WHAT IS PREMARITAL
COUNSELING
Premarital counseling is a type of family therapy that helps
couples prepare for marriage. Premarital counseling can help
ensure that you and your partner have a strong, healthy
relationship in addition to giving you a better chance for a
stable and satisfying marriage
PRE MARITAL SCREENING
PROGRAM
• Genetic disorders particularly Hemoglobin disorders are
common in Saudi Arabia.
• In 2004 the Saudi Ministry of Health implemented a
mandatory premarital screening program to decrease the
incidence of these genetic disorders in future generations.
• In 2008 this test was updated to include mandatory screening
for HBV , HCV and HIV.
• This new program was named “ program of healthy marriage”.
Any succussesful screening program must comply with :
• prevailing culture
• Ethnic values.
• Economic values .
• Societal values.
WHAT ARE THE TESTS PERFORMED
•
•
•
•
•
•
•
•
•
Complete Blood Count.
Sickle cell test.
Hemoglobin electrophoresis.
HBs Ag.
Anti-HCV.
HBV screening by ELISA..
HCV screening by ELISA.
Anti-HIV.
HIV-Confirmation by Western blot Method.
WHY TO INCLUDE
HEMOGLOBIN DISORDERS IN
PREMARITAL SCREENING
PROGRAM
These are autosomal recessive inheritable haemoglobinopathies .
Common in some regions of Saudi Arabia.
These are incurable disorders and causes significant morbidity and
mortality.
This imposes a heavy financial burden on the society.
HOW SCREENING TESTS
CAN HELP
• A simple blood test can detect CARRIERS of these disorders .
• The future couples could be informed about their chances of
producing affected children
WHY TO INCLUDE HIV / HBV /HCV IN
PREMARITAL SCREENING PROGRAM
• These diseases are now prevalent in epidemic proportion .
• They can be easily transmitted to sexual partners and to new borns.
• They are not curable .
• The mortality and morbidity rates are high.
LABORATORY INTERPRETATION OF
HEMOGLOBINOPATHIES
• β -Thalassemia minor (Trait) : symptomless heterozygous
carrier state.
• β -Thalassemia Major : severe symptomatic homozygous
Anemia.
• Sickle cell anemia.
• Sickle cell trait.
TYPES OF NORMAL
HEMOGLOBIN
• 1.Hb A comprises 92% of adult hemoglobin.
• 2. Hb A2 comprises 2-3% of adult hemoglobin. Increased In
β-Thalassemia.
• 3. Hb F -- Comprises less than 1% of hemoglobin in adults.
Normal Hemoglobin in Fetus from 3-9th month of life.
Increased In β-Thalassemia.
TYPES OF ABNORMAL HEMOGLOBIN
CHAIN PRODUCTION
• Hb H -----found in α-Thalassemia.
It is mild to moderate anemia , when 2-3 genes are deleted.
• Hb Barts --- found in α-Thalassemia.
*It is severe form of anemia , when all 4 genes are deleted.
*Hb Barts cannot carry oxygen and is incompatible with life.
Infants are still born or die immediately after birth
TYPES OF ABNORMAL HEMOGLOBIN
CHAIN
STRUCTURE
• Hb S -- Sickle Cell Hemoglobin.
In homozygous state both genes are abnormal – presents as Sickle cell Anemia.
Hb is b/w 6-8 gm /dl.
Reticulocyte count is 10-20%.
Hb electrophoresis Shows = Hb A : 0 % ,
Hb SS :95% ,
Hb F : 2-20% .
•
Hb AS ---Sickle cell trait.
In heterozygous state only one chromosome carries the gene. Hb electrophoresis
Shows =
Hb A : 60 % ,
Hb SS :40% ,
Hb F : 2 % .
• Sickling Solubility test: precipitation of Hb S gives a turbid appearance .
The parents of affected child will show sickle cell trait.
ABNORMAL HEMOGLOBIN
CHAIN STRUCTURE
• Hb C disease ---may be associated with Hb S (Hb SC disease)
Increased likely hood of thrombosis with life threatening
episodes.
• Hb E ---combined defects of Globin chain production and
structure. It is combination of β- thalassemia trait and Sickle
cell trait .
GENETIC CARRIER
A person who carries an allele without exhibiting its effects.
Such an allele is usually recessive, but it may also be
dominant and latent, with symptoms that do not appear
until adulthood
WHO IS A CARRIER OF
THALESSAEMIA
• The β Thalassemia Trait is indicated by the following :
•
•
•
•
•
Normal or slightly low Hemoglobin.
Decreased mean cell volume (MCV)
And/or reduced mean cell hemoglobin (MCH).
Hemoglobin A2 Level >3.5% by Hemoglobin electrophoresis.
Microcytic hypochromic picture.
HOW WILL YOU INTERPRET AN
AUTOSOMAL RECESSIVE
DISORDER
• This disorder manifests itself only when individual is
homozygous for the disease Allele.
• The parents are generally unaffected healthy carriers .
• The offspring of an effected person will be healthy
heterozygotes unless other parent is also a Carrier.
POSSIBLE FUTURE CHILD’S FAITH
• So when Carrier marry a Carrier ; the offspring could be either of
the following :
• homozygous and effected --25% chance
( 1 in 4 chance )
• A Carrier ------ 50% chance .
• Genetically Normal ------ 25% chance .
WHO IS A VIRAL CARRIER
One who harbors disease organisms in his body without manifesting
any symptoms, thus acting as a distributor of infection.
A VIRAL CARRIER’S FATE
• HIV and Hepatitis B & C viruses can remain dormant for
months or even years in CARRIERS without showing any
symptoms.
• With early diagnosis and treatment CARRIERS of HIV or
hepatitis viruses can keep the symptoms under control and
reduce the risk of serious complications.
SCREENING FOR HBV
Who is HBV Carrier
• Following an acute HBV infection , which may be sub-clinical,
5-10% of patients will not clear the Virus and will become
carrier’s of Hbs Ag.
• Carriers are usually discovered incidentally on blood Test
either Pre marital examination or routine health check-up or
blood Donation.
SCREENING FOR HCV
• 70-90 % of cases found in post-transfusion cases.
• Again mostly found incidentally
• Not easily spread through sexual –contact.
FATE OF HCV –INFECTION
No carrier state found .
• Chronic liver disease --- 70-80 % of cases.
• Cirrhosis of Liver ----- 5% of cases.
• Hepatoma ------------ 15 % of cases
SCREENING FOR HIV
• HIV is a Retrovirus infecting T-Helper cells bearing the CD4
receptors.
• Transmission is sexual --- 60-70% of cases.
• From mother to child ---- 90% of cases.
FATE OF HIV-ANTIBODIES
• Confirmed by Western blot Test.
• Presence of HIV-antibodies gives no indication about disease
progression. After exposure to HIV –infected person it may take up
to 3months to become positive.
• Consider repeating this test if exposure may have occurred < than
3 months prior to testing.
WHAT WILL HAPPEN AFTER THE TESTS
Consult your Family Physician
What steps a Family Physician should take ?
IN CASE OF CARRIER FOR
HEMOGLOBINIPATHIES:
• The future couple should be advised that after marriage
your children could suffer from Sickle Cell anemia or
Thalassemia.
• The physician will not issue the premarital fitness certificate.
• The decision will be for the future couple whether to go
ahead with the marriage or not.
IN CASE OF INFECTION WITH
HIV OR HEPATITS VIRUSES:
• The physician will repeat the test before confirming the diagnosis.
• If still positive ; will not issue premarital fitness certificate.
• HIV & HCV Positive are encouraged to avoid marriage– as there is
much higher chance to transmit infection to your future spouse.
• In HBV Carriers , the healthy partner is advised to be
vaccinated.
• The HIV ,HCV patient will be informed and referred to a
Specialty Clinic for Follow-up.
WHAT ETHICAL ISSUES CAN
ARISE
• usually premarital screening comes too late for couples to change
their opinions ABOUT marriage.
• By this time they are already committed for this relationship.
• Which Spouse would be affected the Most ?
Male
Female
Is it a stigma or dilemma for female?
A TABOO FOR FEMALE
• Rejecting marriage on these ground may effect her Social
Life .
• Sometimes this stigma may prevent her from
ever getting Married .
STIGMA FOR MALE OR
FEMALE
• HIV-testing also has far-reaching social impact especially when
someone is planning to marry.
• In some communities certain values may clash with the concept of
premarital HIV-testing with major issues of confidentiality
What is the Family Physicians
Role ?
DISCUSS GENETIC COUNSELING
• Encourage individual or family to obtain information about a
genetic condition that may effect them
• They can make appropriate decisions about marriage ,
reproduction and health management.
DISCUSS CONSANGUINITY :
• Relationships by blood or common ancestry, in
which the chances of offspring inheriting a recessive
allele for a disease are increased .
• The closer the relationship , the greater the risk.
PREVALENCE OF
CONSANGUINEOUS MARRIAGES IN
MUSLIM COMMUNITY
• 25-60% of all marriages in Arab regions are consanguineous ,
with a high incidence of first-cousin marriage.
• In Saudi Arabia , 90% of couples detected as carriers did not
follow the advice and went ahead with their marriages.
• Social and familial commitments make it difficult to ask
partners to undergo pre marital testing.
Wrong religious beliefs could be obstacles to premarital
screening success regardless of education level.
A SUCCESSFUL PRE MARITAL
COUNSELING APPROACH
• Education and attitude of the couples to be screened .
• The meaning of the term “carrier Status” should be made
known to public long before they get married.
• Educational programs about the benefits of premarital
examination should target unmarried males , so they can make
informed choices about unmarried females and
consanguineous marriages.
• Active involvement of policy makers to establish and
implement appropriate screening techniques and policies.
• “Solution focused” pre marital counseling:
Helping couples to develop a shared vision for the
marriage.
• Solution- oriented interventions .
• Solution -oriented questions and feedback
• Approach adopted by the counselor . Educate all members of
the screening Team ( lab technologist; nurse practitioners;
physicians; counselors; out-reach workers ; social workers. )
• There should be good cooperation between community and
religious leaders, schools, parents, and health professionals.
AVAILABLE CHOICES AFTER
POSITIVE TEST RESULTS :
• Avoidance of marriage.
• Those who proceed can be offered reproductive options
after prenatal diagnosis.
CONCLUSION
Any mandatory screening program does have the potential to
succeed as long as the TARGET POPULATION is clearly
identified and all ethical issues (confidentiality of results)
,religious , cultural and human rights and concerns about
post-diagnostic management are fully addressed.